Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity.

Introduction: The congenital myasthenic syndromes are a heterogeneous group of genetic disorders characterized by an abnormal synaptic transmission in the neuromuscular plate.

Report: We present a two-year-old patient, male, with hypotonia, palpebral ptosis, and proximal symmetric weakness with a neonatal onset that motivated several and prolonged hospitalizations for pneumonia and respiratory failure. From two years of age, the parents noticed that the facial and general weakness worsened in the afternoons and with repeated or prolonged physical activity.

[Characteristics of patients with cerebral palsy seen in neuropediatric external consultation in a peruvian hospital].

The aim of this study was to describe the neurological consultation and baseline characteristics of children with cerebral palsy (CP). The clinical records of children with CP attending an external consultation of the Neuropediatric department of Hospital Nacional Cayetano Heredia between 2011 and 2012 were assessed in this retrospective descriptive study. A total of 81 children were included: 53.

[Traumatic bran injury in children attending a national hospital in Lima, Peru 2004-2011].

In order to describe the characteristics of traumatic brain injury (TEC) in children seen at the Cayetano Heredia National Hospital from 2004 to 2011, a case study was conducted. 316, 14 year-old minors were included, the median age was 4 ± 3 years old. 63.

[Enteroviral central nervous system infections in children treated at a hospital in Lima, Peru].

Objectives: To determine the frequency and clinical features of central nervous system infections caused by enterovirus in children treated at the Hospital Nacional Cayetano Heredia in Lima, Peru.

Materials And Methods: A prospective, descriptive study was performed from April 2008 to March 2010. Patients aged 1 month - 14 years with clinical diagnosis of encephalitis or aseptic meningitis were included.